GLE1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365129	NM_001003722.2(GLE1):c.-51G>A	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365130	NM_001003722.2(GLE1):c.-45T>C	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 912454	NM_001003722.2(GLE1):c.-34G>A	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 285426	NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg)	GLE1 (P2R)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1660166	NM_001003722.2(GLE1):c.6G>A (p.Pro2=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574794	NM_001003722.2(GLE1):c.6G>T (p.Pro2=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717932	NM_001003722.2(GLE1):c.18C>G (p.Arg6=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936913	NM_001003722.2(GLE1):c.31T>C (p.Leu11=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 365131	NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)	GLE1 (D18E)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2920360	NM_001003722.2(GLE1):c.63C>G (p.Arg21=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 913573	NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly)	GLE1 (R26G)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +2 more	GUncertain significance
Select item 2834757	NM_001003722.2(GLE1):c.87G>A (p.Leu29=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1362319	NM_001003722.2(GLE1):c.96del (p.Glu33fs)	GLE1 (E33fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2731786	NM_001003722.2(GLE1):c.97G>T (p.Glu33Ter)	GLE1 (E33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1663139	NM_001003722.2(GLE1):c.99+7G>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977972	NM_001003722.2(GLE1):c.99+10G>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853109	NM_001003722.2(GLE1):c.99+15del	GLE1	Deletion (intron variant)	not provided	GBenign
Select item 2899699	NM_001003722.2(GLE1):c.99+13C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758910	NM_001003722.2(GLE1):c.99+14C>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809916	NM_001003722.2(GLE1):c.99+15C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693889	NM_001003722.2(GLE1):c.99+15C>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185280	NM_001003722.2(GLE1):c.99+29C>G	GLE1	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GBenign
Select item 2840148	NM_001003722.2(GLE1):c.100-18C>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955975	NM_001003722.2(GLE1):c.100-16C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801620	NM_001003722.2(GLE1):c.100-10T>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1111734	NM_001003722.2(GLE1):c.100-8T>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 619142	NM_001003722.1(GLE1):c.100-7_100-3del	GLE1	Deletion (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome	GPathogenic
Select item 3100135	NM_001003722.2(GLE1):c.100G>A (p.Asp34Asn)	GLE1 (D34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1555180	NM_001003722.2(GLE1):c.102T>C (p.Asp34=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000112	NM_001003722.2(GLE1):c.111A>G (p.Glu37=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997659	NM_001003722.2(GLE1):c.112G>T (p.Glu38Ter)	GLE1 (E38*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2981289	NM_001003722.2(GLE1):c.118_121del (p.Met40fs)	GLE1 (M40fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 702330	NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr)	GLE1 (C39Y)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GLikely benign
Select item 285105	NM_001003722.2(GLE1):c.127C>T (p.Pro43Ser)	GLE1 (P43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085684	NM_001003722.2(GLE1):c.135A>G (p.Leu45=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697330	NM_001003722.2(GLE1):c.150A>C (p.Gly50=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046980	NM_001003722.2(GLE1):c.150A>T (p.Gly50=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764178	NM_001003722.2(GLE1):c.152G>A (p.Trp51Ter)	GLE1 (W51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1070597	NM_001003722.2(GLE1):c.153G>A (p.Trp51Ter)	GLE1 (W51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2758223	NM_001003722.2(GLE1):c.157del (p.Val52_Val53insTer)	GLE1	Deletion (nonsense)	not provided	GPathogenic
Select item 2999612	NM_001003722.2(GLE1):c.162G>A (p.Glu54=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629723	NM_001003722.2(GLE1):c.165C>T (p.His55=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043423	NM_001003722.2(GLE1):c.166G>A (p.Val56Ile)	GLE1 (V56I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1660515	NM_001003722.2(GLE1):c.169C>T (p.Leu57=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146632	NM_001003722.2(GLE1):c.174C>G (p.Pro58=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553878	NM_001003722.2(GLE1):c.177T>C (p.His59=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 285100	NM_001003722.2(GLE1):c.178A>G (p.Met60Val)	GLE1 (M60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870512	NM_001003722.2(GLE1):c.192A>G (p.Gln64=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968155	NM_001003722.2(GLE1):c.195T>C (p.Pro65=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667605	NM_001003722.2(GLE1):c.195T>G (p.Pro65=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074819	NM_001003722.2(GLE1):c.199_202del (p.Ser67fs)	GLE1 (S67fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1547952	NM_001003722.2(GLE1):c.207T>G (p.Thr69=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142975	NM_001003722.2(GLE1):c.210G>A (p.Ser70=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754994	NM_001003722.2(GLE1):c.210G>T (p.Ser70=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715360	NM_001003722.2(GLE1):c.216C>G (p.Ser72=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168296	NM_001003722.2(GLE1):c.222G>A (p.Thr74=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1958086	NM_001003722.2(GLE1):c.225A>C (p.Ser75=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150189	NM_001003722.2(GLE1):c.234C>A (p.Ala78=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552794	NM_001003722.2(GLE1):c.237A>G (p.Leu79=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 951677	NM_001003722.2(GLE1):c.241C>T (p.Gln81Ter)	GLE1 (Q81*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2909163	NM_001003722.2(GLE1):c.255T>C (p.Val85=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985589	NM_001003722.2(GLE1):c.261A>G (p.Lys87=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 705640	NM_001003722.2(GLE1):c.270C>T (p.Asp90=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281539	NM_001003722.2(GLE1):c.271G>T (p.Ala91Ser)	GLE1 (A91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 796564	NM_001003722.2(GLE1):c.276C>T (p.Ser92=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807124	NM_001003722.2(GLE1):c.282C>T (p.Ala94=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034195	NM_001003722.2(GLE1):c.294C>G (p.Ala98=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750137	NM_001003722.2(GLE1):c.303A>C (p.Ala101=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015891	NM_001003722.2(GLE1):c.309A>G (p.Pro103=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100140	NM_001003722.2(GLE1):c.316A>G (p.Thr106Ala)	GLE1 (T106A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1067708	NM_001003722.2(GLE1):c.321+2T>G	GLE1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1640704	NM_001003722.2(GLE1):c.321+8T>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 365132	NM_001003722.2(GLE1):c.321+13T>G	GLE1	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 2733417	NM_001003722.2(GLE1):c.321+16G>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018824	NM_001003722.2(GLE1):c.321+17C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200087	NM_001003722.2(GLE1):c.322-198T>G	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256859	NM_001003722.2(GLE1):c.322-35_322-29del	GLE1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 2862067	NM_001003722.2(GLE1):c.322-20T>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789274	NM_001003722.2(GLE1):c.322-17A>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967239	NM_001003722.2(GLE1):c.322-9C>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900190	NM_001003722.2(GLE1):c.322-8T>A	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1154189	NM_001003722.2(GLE1):c.322-7C>T	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1097710	NM_001003722.2(GLE1):c.322-5T>C	GLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1483777	NM_001003722.2(GLE1):c.322-1G>A	GLE1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1452661	NM_001003722.2(GLE1):c.327del (p.Asp110fs)	GLE1 (D110fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1087063	NM_001003722.2(GLE1):c.327A>G (p.Lys109=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991324	NM_001003722.2(GLE1):c.336C>G (p.Ser112=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976881	NM_001003722.2(GLE1):c.351T>A (p.Ser117=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075479	NM_001003722.2(GLE1):c.357_364del (p.Gln121fs)	GLE1 (Q121fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2207197	NM_001003722.2(GLE1):c.361C>G (p.Gln121Glu)	GLE1 (Q121E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2833907	NM_001003722.2(GLE1):c.366C>T (p.Ser122=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696931	NM_001003722.2(GLE1):c.369A>C (p.Ser123=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842415	NM_001003722.2(GLE1):c.370C>A (p.Arg124=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749897	NM_001003722.2(GLE1):c.376dup (p.Ile126fs)	GLE1 (I126fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2474963	NM_001003722.2(GLE1):c.380A>G (p.Lys127Arg)	GLE1 (K127R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991325	NM_001003722.2(GLE1):c.380A>C (p.Lys127Thr)	GLE1 (K127T)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome	GUncertain significance
Select item 746559	NM_001003722.2(GLE1):c.384G>A (p.Val128=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146461	NM_001003722.2(GLE1):c.393C>T (p.Cys131=)	GLE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196290	NM_001003722.2(GLE1):c.394G>A (p.Val132Ile)	GLE1 (V132I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 632534	NM_001003722.2(GLE1):c.397C>T (p.Arg133Ter)	GLE1 (R133*)	Single nucleotide variant (nonsense)	GLE1-related disorder +1 more	GConflicting classifications of pathogenicity

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